CASK


Summary: This gene encodes a calcium/calmodulin-dependent serine protein kinase. The encoded protein is a MAGUK (membrane-associated guanylate kinase) protein family member. These proteins are scaffold proteins and the encoded protein is located at synapses in the brain. Mutations in this gene are associated with FG syndrome 4, intellectual disability and microcephaly with pontine and cerebellar hypoplasia, and a form of X-linked intellectual disability. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2017].

NameOMIM IDEnsembl IDHGNC IDPHARMGKB IDMap Location
calcium/calmodulin dependent serine protein kinaseMIM:300172Ensembl:ENSG00000147044HGNC:HGNC:1497PA26081Xp11.4

GO terms in CASK


Term TypeEvidence TypeGO Term IDGO Des.
CCIDAGO:0005604basement membrane
CCIDAGO:0005604basement membrane
CCIDAGO:0005652nuclear lamina
CCIDAGO:0005730nucleolus
CCIDAGO:0005737cytoplasm
CCTASGO:0005829cytosol
CCTASGO:0005886plasma membrane
CCIDAGO:0005911cell-cell junction
CCHDAGO:0005925focal adhesion
CCTASGO:0015629actin cytoskeleton
CCIDAGO:0016363nuclear matrix
CCISSGO:0042734presynaptic membrane
CCISSGO:0060170ciliary membrane
BPIMPGO:0001953negative regulation of cell-matrix adhesion
BPIEAGO:0006468protein phosphorylation
BPTASGO:0007155cell adhesion
BPTASGO:0007269neurotransmitter secretion
BPIDAGO:0010839negative regulation of keratinocyte proliferation
BPIMPGO:0010839negative regulation of keratinocyte proliferation
BPIEAGO:0046037GMP metabolic process
BPIEAGO:0046710GDP metabolic process
BPIMPGO:0061045negative regulation of wound healing
BPIMPGO:0090288negative regulation of cellular response to growth factor stimulus
MFTASGO:0004385guanylate kinase activity
MFIEAGO:0004674protein serine/threonine kinase activity
MFIPIGO:0005515protein binding
MFIEAGO:0005516calmodulin binding
MFIEAGO:0005524ATP binding

Gene expression in normal tissue: CASK

Gene-model tissue-cancer distribution: Bubble Plot

Gene-drug pathway distribution

Pathways in CASK


DatabasePathway IDPathway Des.
reactomeR-HSA-112310Neurotransmitter release cycle
reactomeR-HSA-112315Transmission across Chemical Synapses
reactomeR-HSA-112316Neuronal System
reactomeR-HSA-112316Neuronal System
reactomeR-HSA-1474244Extracellular matrix organization
reactomeR-HSA-1500931Cell-Cell communication
reactomeR-HSA-212676Dopamine Neurotransmitter Release Cycle
reactomeR-HSA-3000170Syndecan interactions
reactomeR-HSA-3000171Non-integrin membrane-ECM interactions
reactomeR-HSA-373753Nephrin family interactions
reactomeR-HSA-6794361Neurexins and neuroligins
reactomeR-HSA-6794361Neurexins and neuroligins
reactomeR-HSA-6794362Protein-protein interactions at synapses
reactomeR-HSA-6794362Protein-protein interactions at synapses
wikipathwaysWP2359Parkin-Ubiquitin Proteasomal System pathway
wikipathwaysWP4148Splicing factor NOVA regulated synaptic proteins
pidsyndecan_1_pathwaySyndecan-1-mediated signaling events
pidsyndecan_2_pathwaySyndecan-2-mediated signaling events
pidsyndecan_3_pathwaySyndecan-3-mediated signaling events

Gene-Drug: Aster Plot


Drug IDDrug NameModel Num.
iGMDRD211(1S,3R)-RSL32
iGMDRD945ML2143
iGMDRD57Chloropentafluorobenzene1
iGMDRD116CD4372
iGMDRD424Tamatinib3
iGMDRD1036X17AAG1
iGMDRD84Lovastatin acid2
iGMDRD584VER 1550082
iGMDRD607Ubistatin B5
iGMDRD248BRD43541
iGMDRD246NPC263
iGMDRD263AACOCF32
iGMDRD871BRD63685
iGMDRD366PI-1031
iGMDRD105Triptolide1
iGMDRD289Parthenolide2
iGMDRD434BMS-5369243
iGMDRD394BX-7953
iGMDRD466Chaetocin2
iGMDRD446LY 21832401
iGMDRD546BMS-7548071
iGMDRD427ABT7371
iGMDRD494Neopeltolide2
iGMDRD781Sirolimus1
iGMDRD772BRD47702
iGMDRD420Leucascandrolide A2
iGMDRD190Nilotinib1
iGMDRD64Parbendazole2
iGMDRD356PNU-746542
iGMDRD100Zebularine4
iGMDRD506Fedratinib5
iGMDRD171Pemetrexed2
iGMDRD885Compound 1104
iGMDRD870BRD636103
iGMDRD138PX 123
iGMDRD134Sorafenib1

Gene in drug-gene network: Network Plot

Gene-drug targets distribution

Gene Structure: PDB

Models in CASK

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